Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

..Starting node
..Perioral hyperkeratosis (HP:0033707)

Term ID:

33707

Name:

Perioral hyperkeratosis

Synonym:

Definition:

Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.

Comments:

Reference:

HP:0033707

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033707	HP:0033707	Perioral hyperkeratosis	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2

Genes (1) :PERP

Diseases (1) :OMIM:619208

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.